R I Ortiz de Luna
Overview
Explore the profile of R I Ortiz de Luna including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
9
Citations
426
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Flores Ramirez F, Abreu Gonzalez M, Delgado C, Aparicio Onofre A, Guevara Yanez R, Sanchez Urbina R, et al.
Genet Couns
. 2011 Feb;
21(4):363-73.
PMID: 21290965
We describe a patient who had multiple malformations including ventriculomegaly, colpocephaly, corpus callosum, cerebellum and vermix hypoplasia, optic nerve hypoplasia, corneal opacity and congenital heart disease in whom a trisomy...
2.
Johnson M, Wilkin D, Vos H, Ortiz de Luna R, Dehejia A, Polymeropoulos M, et al.
Matrix Biol
. 1998 Mar;
16(5):289-92.
PMID: 9501329
Ecm1, the mouse gene encoding extracellular matrix protein 1, is highly expressed in bone and cartilage as well as in osteogenic, preosteoblastic and chondroblastic cell lines. Ecm1 was recently localized...
3.
Howard T, Paznekas W, Green E, Chiang L, Ma N, Ortiz de Luna R, et al.
Nat Genet
. 1997 Jan;
15(1):36-41.
PMID: 8988166
Saethre-Chotzen syndrome is one of the most common autosomal dominant disorders of craniosynostosis in humans and is characterized by craniofacial and limb anomalies. The locus for Saethre-Chotzen syndrome maps to...
4.
Johnson M, Polymeropoulos M, Vos H, Ortiz de Luna R, Francomano C
Genome Res
. 1996 Nov;
6(11):1050-5.
PMID: 8938428
Pycnodysostosis (MIM 265800) is a rare, autosomal recessive skeletal dysplasia characterized by short stature, wide cranial sutures, and increased bone density and fragility. Linkage analysis localized the disease gene to...
5.
Ide S, Ortiz de Luna R, Francomano C, Polymeropoulos M
Hum Genet
. 1996 Nov;
98(5):572-5.
PMID: 8882877
Ellis van Creveld syndrome (EVC) is an autosomal recessive disorder which has previously been mapped to human chromosome 4p16.1. This disorder is characterized by disproportionate dwarfism, polydactyly, cleft palate, natal...
6.
Polymeropoulos M, Ide S, Wright M, Goodship J, Weissenbach J, Pyeritz R, et al.
Genomics
. 1996 Jul;
35(1):1-5.
PMID: 8661097
Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by disproportionate dwarfism, polydactyly, and congenital heart disease. This rare disorder is found with increased frequency among the Old Order...
7.
Polymeropoulos M, Ortiz de Luna R, Ide S, Torres R, Rubenstein J, Francomano C
Nat Genet
. 1995 Jun;
10(2):238-9.
PMID: 7663522
Pycnodysostosis (OMIM 265800) is an autosomal recessive skeletal disorder first described by Maroteaux and Lamy that is characterized by short stature, increased bone density, delayed closure of cranial sutures, loss...
8.
Bellus G, Hefferon T, Ortiz de Luna R, Hecht J, Horton W, Machado M, et al.
Am J Hum Genet
. 1995 Feb;
56(2):368-73.
PMID: 7847369
Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for mutations in the fibroblast growth factor receptor 3 (FGFR3) transmembrane domain. All but one, an atypical case, were found...
9.
Francomano C, Ortiz de Luna R, Hefferon T, Bellus G, Turner C, Taylor E, et al.
Hum Mol Genet
. 1994 May;
3(5):787-92.
PMID: 8081365
Achondroplasia has been mapped to 4p16.3 using 18 multigenerational families with achondroplasia and 10 short tandem repeat polymorphic markers from this region. No evidence of genetic heterogeneity was found. Analysis...